Wednesday, July 18, 2012

BBS conference at Duke University

So Dave and I went on a “date” to the BBS Conference at Duke University in June. It was kind of a pre-anniversary, pre-father’s day thing. (For new readers, our daughter Lucy has BBS…read more about that here.)

Not the way we would choose to spend either of those days, but it turned out so much better than we expected. Dave has been really hesitant to go to these things because he figures if it doesn’t tell us how to fix BBS then why go. It can be pretty rough to go to these things because you can catch a glimpse of where your daughter may end up in the future and sometimes seeing all the other kids is tough.

We weren’t going to go since I had recently gone to the one in England (back here), but we have “met” so many amazingly conscientious BBS parents through the Internet we ultimately decided it would sure be a great opportunity if we could all meet there.

The more we parents dealing with BBS band together, the stronger we can be to seek out the best care for our kids. And the more researchers will take us seriously. I think if we work together we can be a really strong force for good.

It was so good to meet these neat families who are so conscientious and on-the-ball. I wish I had pictures of all of them, but here are a few.

See that sweet girl in the front? She was our inspiration a couple years ago when my mom and I went to the conference. She is doing so great and her parents are so on top of things.

The lady in blue above is the one who told me about TUDCA (more about that in this post) in the first place. She has the sweetest little boy a little older than Lucy and I’m mad I don’t have a picture of him.

These parents below have taken such amazing care of their daughter (in the middle) who is now in her thirties. She has lost a ton of weight and has her own job at a consignment store.
Here are a bunch of my new friends.
It feels so good to know that I could email any one of them any time and feel understood and comforted, knowing that we are all working toward the same things, and all deal with so many of the same issues.

Sweetest little boy:
(Pretty sweet big guy too :)

On top of meeting so many wonderful people, we sat and learned so much as doctors and researchers went through all the things they specialize in.
I was really intrigued by the talk about speech in these kids. It all clicked to me because it was exactly how Lucy’s speech development has been.
The woman who put this one together has a daughter with BBS and she has done so much research.
Her daughter spoke as well. She is a college graduate with BBS and has some serious will-power and spunk.
She gave me so much hope for Lucy’s future.

But I will admit that seeing her mom and how on-the-ball she was to help her get to the point where she is made me tired.

We talked about kidney function:
…which actually made me super worried about Lucy’s kidneys. Kids with BBS often have a lot of kidney problems and a large percentage have to end up with kidney transplants. We found out that issues don’t generally manifest themselves before it’s too late in kids with BBS because they have a high tolerance for pain and don’t recognize the symptoms as easily.

Needless to say we came right home and got Lu into a renal ultrasound and even a VCUG. It was horrible, but it gave us a good peace of mind that things are still looking ok.

We talked a bunch about retinas and their impending degeneration.
…and discussed tons about cilia and “ciliopathies” (all kinds of problems that relate back to the cilia and how they function). In times like this I sure wish I had studied medicine in school. Wow, there is so much to take in for common folk like me.

We loved our “lab tour” and meeting many of the sweet research students from all over the world who dedicate all their time to studying BBS and all that goes with it.Here’s the main researcher:
This is their simplified depiction of cilia on cells and how some don’t have it and others are dysfunctional.
They do a lot of their work on zebra fish:
…as well as on mice:
Here are a couple of the wonderful presenters…both very specialized in eyesight. Their lectures were both fascinating and we are excited to stay in contact with them as we go through this journey.
This cute girl not only had her parents there, but both sets of grandparents. I loved getting to know them a little bit.
This boy was awesome:He’s sixteen and has very little vision. I asked him what he would recommend to help Lucy at this age and he immediately told us working with her on Braille would be the best thing we could do. Kind of a dagger in the heart, but so true.

Check out these awesome people:
Here’s another conscientious mom we are so glad we got to meet. She and her husband are both researchers and although their daughter is relatively newly diagnosed, they already have so much great information. Some day we will all have to bring our kids so they can get to know each other.
I think the best thing was that we saw so many people who were dealing so amazingly well with the obesity issue. They are serious about exercise and food intake and vitamins, etc.

The hardest thing was that almost all of the older kids really have lost their vision.

I think up til this point Dave and I have just kind of hoped that Lucy is on the good end of the vision spectrum and that maybe she will keep that poor vision of hers for as long as possible.

But we realized that’s not going to happen if we don’t take some serious steps to push research more and seek our own answers. Blindness in BBS kids is very real.

And that makes us really, really sad.

At the end of the conference we had “elections” for a new board. Dave and I have a dear friend who we “met” through the Internet when Lucy very first got diagnosed. He has a son about a year ahead of Lucy and has helped us SO much through the last couple years.

Here he is with his family we finally got to meet: He became the new president and will do such an amazing job.

For some crazy reason I was nominated as the new Vice President. I really tried to turn that thing down at first figuring someone else could do such a better job. But I’ll be so happy if I can help band people together to help generate more strength for the journey that lies ahead for all of us.

So happy we could come out of that thing with smiles. I had been so worried about Dave and how rough it would be for him but man alive we both came away so glad we went.
We couldn’t get a flight out the night after the board meeting so we hung around Duke the next morning which happened to be Father’s Day.I’m sure Dave was overjoyed to follow me around snapping away pictures with my iPhone but I couldn’t help it.

I love that campus.We got home that evening to super excited kids to help celebrate Father’s Day and a babysitter we adore.
…Ready to take life and this BBS thing on and make things the best we possibly can.

19 comments:

Wow you sure do amaze me!! I've never met you but I love reading about your life. I think the thing I love most about you is your outlook on life. It is so real and raw and just almost tangible! You don't sugarcoat things but you truly have a pure optimistic outlook on life an THAT is inspiring. I so look to you for inspiration as a young mother. I hope to have your outlook and perspective one day. If only you could know the positive influence you've been on me... As I'm sure you've been for hundreds of others. Seriously, thank you so much for keeping up this blog. It gives me so much hope in my own motherhood journey and for that I am forever grateful for you! Maybe one day I'll be lucky enough to meet you. :) enjoy your day!

It's so great that you go to things like this. Lucy is so lucky to have you guys as parents! Thanks for sharing a little bit about the other people with BBS. I am so impressed with the college graduate's mother. That requires so much love and so much patience!

I've been ready your blog for a short time...and love it. I think you are amazing parents. It's seems to me that you are doing everything possible to enrich Lucy's life now and in the future. She looks like such a happy little girl. When I see her sweet face in your pictures I smile. We have a daughter who is mildly mentally handicapped. It is rough to say the least. Anyway, thanks for sharing your story.

Hi Shawni, Last month I ran into a friend I hadn't seen in about a year and she had her new 3 month old son with her. She said, "All is great with her baby, except for the fact that he was born with an extra toe." She brushed it off saying it was no big deal and they will eventually get it removed. I immediately thought of your Lucy but I didn't say anything to her about BBS. I didn't want to worry her. Should I call her and tell her or is that something the doctors would have already ruled out? I also wasn't sure what percentage of kids with an extra toe end up having BBS.

Braun Family, BBS is very rare and having extra digits really is much more common than we had thought. But it doesn't hurt to keep an eye on it...If that baby doesn't have developmental delays and isn't overweight he's probably just fine.

I guess with all your other posts, it never HIT me like it did with this one. Poor little Lucy and how much worry you guys have gone through I would imagine. I hope she will have the best future possible and I am sure she will with parents like you guys.

I recently read "Crashing Through: A True Story of Risk, Adventure, and a Man Who Dared To See" by Robert Kurson. It's the story of Mike May who lost his vision in a chemical accident at age three and through medical advancements is able to have his vision restored. The procedure isn't one that could be used for BBS kids but it's a fascinating read that I'm sure you would enjoy (if you have the time in your busy schedule). He also invented a talking GPS system for the blind that might be something you want to look into for future use (if researchers aren't able to help Lucy soon enough). http://www.senderogroup.com/ Hope you find this info helpful. Thanks for your wonderful blog. It helps me be a better wife and mother.

For Q&A:My nephew has a rare disease as well, for which there is a small research community with conferences, etc, as you experience with BBS. But his parents feel much the way Dave did that it might be a waste of money/time to go, since there are no current magic bullet treatments. What made Dave change his mind and attend this one? Do you have any tips for attending -- do you do any preparation before?

Congratulations on your appointment to VP! You will do an amazing job! You are such an enthusiastic woman, I know you will influence lives across the world. What a special daughter you have, because of her, you are able to meet with others world wide and unit to help others!

Thank you so much for inspiring me! I am a young mother with a 7 month old who has Hirschsprung's disease. He had emergency surgery when he was 5 days old on Christmas morning to get a colostomy so that he could have bowel movements. It has been a journey but we are getting ready to take him up to Primary Children's hospital to get a second surgery to take out the third of his Colon that doesn't work and connect the part that does to his bum. Seeing your baby go through these physical trials is enough to want to break down! But you are so supportive and do such a great job educating yourself on Lucy's BBS...I need to do better. Thank you for your example!

I'm a reader from oz, and just wanted to say what an amazing job you are doing for Lucy. You talk about all those other conscientious parents, but you are just as conscientious and compassionate. You are such a source of inspiration to me in my journey of motherhood. Thank you for sharing the hard, worrying parts, and the beautiful, heart warming ones too.